Allele Registry

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.

Canonical Allele Identifier: PA2825061415

Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 578142

ClinVar RCV Id: RCV002232909

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000084.3:p.Asp413Glu	CA375450880 NM_000093.5:c.1239C>G CA375450883 NM_000093.5:c.1239C>A