ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060440
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1312068
ClinVar RCV Id:
RCV001761289
RCV001868541
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Pro604Ala
CA400214896
NM_000088.4:c.1810C>G