Canonical Allele Identifier: PA320639
Gene: COL5A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000084.3:p.Lys1410Asn
CA320638
NM_000093.5:c.4230G>C
CA375456895
NM_000093.5:c.4230G>T