ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658671004
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
475900
ClinVar RCV Id:
RCV000555051
RCV001561722
RCV003905470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Pro2802Leu
CA3892294
NM_004370.6:c.8405C>T