ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830124860
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
542491
ClinVar RCV Id:
RCV000652920
RCV002307578
RCV003389058
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542376.2:p.Pro1144Ala
CA3892699
NM_080645.3:c.3430C>G