ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915954204
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
636816
ClinVar RCV Id:
RCV000788756
RCV001370161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Pro146Thr
CA8645701
NM_000088.4:c.436C>A