ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658667185
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451665
ClinVar RCV Id:
RCV000520759
RCV001858012
RCV004023600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Ser1896Thr
CA347282958
NM_015120.4:c.5686T>A