ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573262249
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1516706
ClinVar RCV Id:
RCV002040908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Arg3671Thr
CA347286847
NM_015120.4:c.11012G>C