Canonical Allele Identifier: PA2573162240
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1522627
ClinVar RCV Id: RCV002036154
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Met2661Leu
CA352641221
NM_000094.4:c.7981A>T
CA352641223
NM_000094.4:c.7981A>C