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: PA2580123217

Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2440269

ClinVar RCV Id: RCV003145697

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000485.3:p.Pro457Ala	CA5679052 NM_000494.4:c.1369C>G