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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1315654263
Gene: SLC40A1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.189563993G= , CM000664.2:g.189563993G=
GRCh38
NC_000002.11:g.190428719G= , CM000664.1:g.190428719G=
GRCh37
NC_000002.10:g.190136964G=
NCBI36
NG_009027.1:g.21819C= , LRG_837:g.21819C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261024.7:c.993C=
MANE Select
ENSP00000261024.3:p.Tyr331=
ENST00000261024.6:c.993C=
ENSP00000261024.2:p.Tyr331=
NM_014585.5:c.993C= , LRG_837t1:c.993C=
NP_055400.1:p.Tyr331=
XM_005246505.1:c.873C=
XP_005246562.1:p.Tyr291=
XM_005246505.2:c.873C=
XP_005246562.1:p.Tyr291=
XM_017003938.2:c.873C=
XP_016859427.1:p.Tyr291=
NM_014585.6:c.993C=
MANE Select
NP_055400.1:p.Tyr331=
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