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Canonical Allele Identifier: Get Identifier
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011531643.1:p.[Ile2472delinsPheProThr;Ser2473_Asn2474insGluSerMet;Leu2475_Ter2476insMetSerProSerArgValLysMetAlaAlaPro]
CA2577587813
XM_011533341.1:c.7414del