Canonical Allele Identifier: PA321248
Gene: COL5A1 HGNC NCBI
ClinVar Allele:
210073
ClinVar RCV:
RCV000196835
ClinVar Variation:
212962
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265003.1:p.Gly1117Ala
CA321246
NM_001278074.1:c.3350G>C