Canonical Allele Identifier: PA2825062988
Gene: COL5A1 HGNC NCBI
ClinVar RCV:
RCV002231691
ClinVar Variation:
459699
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Pro1538Thr
CA375458076
NM_000093.5:c.4612C>A