ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495687
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
390225
ClinVar RCV Id:
RCV000420579
RCV001828439
RCV004022464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Thr546Ile
CA1713203
NM_015120.4:c.1637C>T