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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:
CA2770519917
Gene: AGPAT1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32177636del , CM000668.2:g.32177636del
GRCh38
NC_000006.11:g.32145413del , CM000668.1:g.32145413del
GRCh37
NC_000006.10:g.32253391del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000336984.6:c.-10+366del
ENSP00000337463.6:n.-10+366del
ENST00000395497.5:c.-101del
ENSP00000378875.1:n.-101del
NM_032741.4:c.-10+366del
NP_116130.2:n.-10+366del
XM_011514234.1:c.-101del
XP_011512536.1:n.-101del
XM_005248806.2:c.-411del
XP_005248863.1:n.-411del
NM_032741.5:c.-10+366del
NP_116130.2:n.-10+366del
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