ClinGen Allele Registry
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Canonical Allele Identifier:
PA174074
Gene: COL5A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161458
ClinVar RCV Id:
RCV000148992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000084.3:p.Pro1019Ala
CA174073
NM_000093.5:c.3055C>G