Canonical Allele Identifier: PA658666563
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 459732
ClinVar RCV Id: RCV001354120 RCV002231700 RCV000582800 RCV002420392
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Pro706Leu
CA2022440
NM_000393.5:c.2117C>T