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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:
CA2469904289
Gene: AMELY
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.6885251G= , CM000686.2:g.6885251G=
GRCh38
NC_000024.9:g.6753292G= , CM000686.1:g.6753292G=
GRCh37
NC_000024.8:g.6813292G=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000651267.2:c.-112-11180C=
MANE Select
ENSP00000498344.1:n.-112-11180C=
ENST00000651267.1:c.-112-11180C=
ENSP00000498344.1:n.-112-11180C=
XM_011531472.1:c.-112-11180C=
XP_011529774.1:n.-112-11180C=
NM_001143.2:c.-112-11180C=
MANE Select
NP_001134.1:n.-112-11180C=
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